Deformities

Radial clubhand is term for a longitudinal deficiency of the radius and other structures on radial side of forearm and hand. For example, absent thumb is common accompaniment. Proximal deficiencies also can occur throughout the arm and shoulder girdle

Radial clubhand is found in 1 per 100000 people. Radial club hand is bilateral in 50-70% patients.

It is associated with many syndromes as well

Radial clubhand was described first by Petit in 1733.

Radial clubhand is bilateral in 50% of cases and is slightly more common in males than in females.

VATER Syndrome

CHARGE ( coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth or development, genital or urinary abnormalities, and ear abnormalities and deafness) syndrome

Cause and Pathophysiology

Cause of radial club hand is not known but current theory relates defect in ectodermal ridge, a thickened layer of ectoderm that directs differentiation of the underlying mesenchymal tissue and limb formation.

Spectrum of Findings in Radial Club Hand

Radial Club HandClinical Photograph of Radial Club Hand

The forearm is shortened, and the wrist is deviated radially leading to perpendicular relationship between wrist and forearm.

This angulation between the wrist and forearm places flexor and extensor muscles at a disadvantage.

Ulna is two third of the normal length at birth and this discrepancy persists throughoutlife. True forearm rotation is absent.

The joint between the carpus and ulna is usually fibrous. Wrist motion is primarily in the radial/ulnar plane, with some flexion/extension.

Carpal bones ossification is delayed. The scaphoid and trapezium often absent or hypoplastic. The capitate, hamate, and triquetrum are usually present but ossify late.

Finger stiffness is seen. There is limited motion at the metacarpophalangeal and interphalangeal joints. The preaxial index and long fingers are more affected than the postaxial ring and small digits.

Scapula and humerus are smaller and deficiencies of the capitellum and trochlea are common.

Deltoid or pectoralis major muscle can be hypoplastic, partially absent, or have an abnormal insertion. The biceps may be absent or fused to the underlying brachialis muscle.

The flexor and extensor carpi ulnaris, as well as the interossei, lumbricals, and hypothenar muscles, are often normal.

Abnormalities of the thumb muscles are related to the degree of thumb hypoplasia.

The radial nerve usually terminates at the elbow, and the ulnar nerve is normal. Median nerve is enlarged and compensates for the absence of the radial nerve by supplying a dorsal branch for dorsoradial sensibility. The radial artery is often absent, and the interosseous arteries usually remain patent.

Associated abnormalities as noted in syndromic associations could be seen

Classification of Radial Clubhand

Radial clubhand is classified into the following four types according to the amount of radius present:

Type I

Mild radial shortening without considerable bowing

Minor radial deviation of the hand is apparent

Considerable thumb hypoplasia

It is the mildest type of deficiency

Type II

Small radius with distal and proximal physeal abnormalities

Moderate deviation of the wrist

Type III

Partial absence of the radius most commonly the distal portion

Severe wrist radial deviation

Type IV

The most common type

Complete absence of the radius

Hand perpendicular to the forearm

Clinical Presentation of Radial Clubhand

It varies with the degree of radial deficiency and the presence of associated anomalies. Radial deficiency is the classic anomaly that is associated with systemic conditions. All forms, regardless of the degree of expression, warrant systemic evaluation.

The shoulder, elbow, wrist, and digital range of movement are evaluated for active and passive motion. This establishes a baseline for assessing treatment outcome. The thumb is examined for hypoplasia and graded accordingly and stiffness of the fingers is assessed.

Imaging Studies

Plain x-rays are done to assess the degree of radial eficiency and to assess associated abnormalities of the elbow, wrist, and hand.

Radial Club Hand

In radial clubhand, ossification is delayed, and final determination of complete aplasia of the radius or carpus must be deferred up to the age of 8 years.

Patient should be evaluated for possible associated diseases.

Lab Studies

Radial clubhand usually does not require lab studies for diagnosis.

But lab studies and imaging is required to rule out associated conditions wherever required.

Eechocardiograph for heart, ultrasound for kidney and blood count for platelets, and the platelet status is assessed by means of blood count and peripheral blood smear.

The most devastating associated condition is Fanconi anemia. Early detection via a chromosomal challenge test is critical and may ultimately save the affected child.

Treatment of Radial Clubhand

The basic goal of treatment is to maximize function and enhance appearance of upper limb by correcting wrist deviation, balancing the wrist on the forearm and promote growth of the forearm

Passive stretching of the taut radial structures is started at the initial visit and performed at each diaper change and at bedtime. Splint is used when forearm is long enough to accommodate a splint.

Mild deformity does not need any surgical treatment.

Other types need surgical treatment called Centralization. Thumb hypoplasia also requires reconstruction. This procedure is performed in patients aged approximately 1 year. Thumb reconstruction is usually delayed until after forearm treatment and usually done by 18 months of age.

Centralization procedure involves resection of varying amount of carpus, shortening of extensor carpii ulnaris, and, if needed, an angular osteotomy of the ulna is done.

Tendon transfers are used to attempt to correct the muscular imbalance and include advancing the extensor carpi ulnaris.

Contraindications for surgical intervention are a limited life expectancy in a child, mild deformity with adequate support for the hand (type 1), an elbow extension contracture that prevents the hand from reaching the mouth, and, in adults, adjustment to the deformity.

Recurrence is the most common source of failure after centralization

Patients with radial clubhand are required to be followed up into adulthood.

Pathology of Ulnar Club Hand

Usually, the absence of ulna is partial rather than complete. The child has ulnar shortening with radial bowing. Digital anomalies can be found in about 90%.

The fourth and fifth metacarpals, as well as the capitate, lunate, triquetrum, hamate, and pisiform, are absent or deformed.

Ulnohumeral synostosis or radiohumeral synostosis can also be present. The radial head dislocation is present in about 50% of cases.

Radial bowing is produced by the tethering effect of the fibrocartilaginous ulnar anlage, which can also tether the carpus, producing limitation of wrist movement.

In most cases, however, function is very good, and the carpus can be actively centralized.

Because thumb is present, hand is more functional than radial club hand.

Most of the cases of ulnar club hand have sporadic occurrence although genetic syndromes are also known to be associated. Focal dermal hyperplasia, or Goltz [X-linked inheritance] , Split-hand and split-foot with ulnar dysplasia [autosomal dominant] and ulnar defect with mammary gland aplasia syndrome are to name a few.

Clinical Presentation of Ulnar Club Hand

There is a limb-length discrepancy of upper limb and the function is affected. The condition is not painful.

On examination, there is a shortened, bowed forearm with loss of ulnar digits. Elbow function is affected.

All affected patients should undergo a detailed evaluation by a hand and upper limb therapist to assess hand function.

Classification of Ulnar Club Hand

Type 1

Ulnar shortening (distally) with minor radial bow

Hypoplasia of the ulna

Proximal and distal epiphyses present

Hypoplastic or absent ulnar digits

Minimal radial bowing

Type 2

Significant ulnar shortening with a fibrocartilaginous anlage attached to the ulnar carpus, with significant radial bowing

Partial aplasia of the ulna, distal third

Distal ulnar anlage

Bowed radius with anlage acting as a tether

Presence/absence of progressive radial head dislocation

Type 3

Complete absence of the ulna

Unstable elbow

Straight radius

Type 4

Complete absence of the ulna, with a fibrocartilaginous anlage attached to the ulnar carpus

Radiohumeral synostosis at the elbow

Bowed radius

Imaging

X-rays

X-rays of upper limb are done to evaluate elbow, forearm, wrist, and hand. Serial radiographs may be helpful in assessing the degree and course of the aplasia.

Magnetic Resonance Imaging

MRI can be used to evaluate the fibrocartilaginous anlage

Treatment of Ulnar Club Hand

Approach to patient

Initial management of ulnar club hand in infants consist of corrective casting and splinting. A long arm cast is applied with limb in corrected position. Cast needs to be changed periodically. Later on removable splints can be used to maintain correction.

This treatment should be considered till child is 6 months old. At this time exploration and excision of ulnar anlage should be done.

Surgical intervention is needed for syndactyly, radial bowing [ulnar anlage], dislocation of radial head with limited elbow extension and forearm pronation and supination, and internal rotation deformity of the humerus.

Various treatment options are

For Ulnar deviation

Casting from birth, long-arm cast, gradual stretching of the tight ulnar structures. (Mild cases will correct by age 6 mo.)

Anlage

Anlage excision is done

Bowing of Radius

Radial corrective osteotomy. Iti is also useful to correct malrotation of forearm

Proximal femoral focal deficiency is a congenital disorder where the proximal femur is partially absent, and the entire limb is shortened. It is a rare disorder and affects 1-4 person per 50,000. It is also known as congenital femoral deficiency.

Cause and Pathophysiology

The exact cause of proximal femoral deficiency is not known but injury to the neural crest cells that form the precursors to the peripheral sensory nerves of L4 and L5 results in PFFD has been suggested as a factor.

A a defect in proliferation and maturation of chondrocytes in the proximal growth plate has also been suggested. A drug like thalidomide, when taken between the fourth and sixth weeks of gestation, has been shown to cause of proximal femoral focal deficiency.

Associated conditions

Clinical Presentation

There is severe shortening of one or both legs. The proportion of the shortening remains constant with growth. The thigh appears short and bulky [bulbous] which tapers into knee. The limb is flexed, abducted, and externally rotated.

Feet is usually normal.

The knee is unstable on examination due to absent cruciate ligaments. Hypoplastic knee has been reported.

Classification of Proximal Femoral Focal Deficiency

Aitken classification

Class A

Shortened proximal, ending at or slightly above the level of the acetabulum

Femoral head is often absent but later ossifies; femoral head presence is indicated by a well-developed acetabulum

A subtrochanteric defect is present , which eventually ossifies and thereby establishes bony continuity but leaves a residual subtrochanteric varus deformity

Class B

More severe defect or absence of the proximal femur that does not heal spontaneously

End of the proximal femur is above the acetabulum

Femoral head is present but may have delayed ossification is mildly dysplastic

A bony tuft on the proximal end of the shaft is present

Class C

Absent femoral head that does not ossify

Severley dysplastic acetabulum

Femoral shaft is shorter than in a person with class B

Class D

Most severe form

Severely shortened shaft

Often has only an irregularly ossified tuft of bone proximal to the distal femoral epiphysis

Acetabulum is absent

Gillespie’s functional classification

Group A

Possible candidates for limb-lengthening

Congenitally short femurs but clinically stable hips

No significant knee flexion contractures

Ipsilateral foot at or below the level of the middle of the contralateral tibia

Group B

Aitken as classes A, B, and C who require prosthetic treatment.

Surgical procedure is designed to maximize prosthetic function

Group C

Aitken class D. These patients do not require knee fusions before prosthetic fitting

Imaging

X-ray is the basic investigation and Aitken classification is based on radiographic appearance.

It is held that radiographic evaluation tends to overestimate the degree of deficiency and that MRI is the better modality.

Treatment of Proximal Femoral Focal Deficiency

Treatment of proximal femoral focal deficiency must be individualized from patient to patient.

The following factors help in devising the treatment plan

Ultimate leg length discrepancy at skeletal maturity

Presence and severity of foot deformities

Adequacy of musculature of lower limbs

Joint instability of proximal joints

Most of the patients with unilateral deficiency require surgical treatment. Observation is indicated often in children with bilateral deficiency

Some selected patients with unilateral disease may be offered prosthesis but prosthesis acceptance is less because of cumbersomeness and large size of prosthesis.

Surgical treatment

Goal – Ambulation without prosthesis

Procedure – limb lengthening with or without contralateral epiphysiodesis

Imaging

X-rays of whole limb in standing position are preferable to assess the deformity and associated conditions. Opposite extremity is imaged for control and comparison.

Whenever required additional x-rays can be done for detailed analysis.

Classification of Fibular Hemimelia

Classification is based on x-rays

The Achterman and Kalamchi classification:

Type IA

The proximal fibular epiphysis is distal to the level of the tibial growth plate with the distal fibular epiphysis proximal to the talar dome

Type IB

The proximal fibula is absent for 30-50% of its length; the distal fibula is present but does not adequately support the ankle (see the second and third images below)

Type II

The fibula is completely absent

MRI

It better assessed bone and soft tissue abnormalities of the knee joint in patients with fibular hemimelia

Treatment of Fibular Hemimelia

Treatment is mostly surgical. Minor deformities can be left as such and observed.

Goal of the surgical treatment is to provide maximal function by maintaining alignment, length, and stability of the involved lower limb. This goal may not always be achievable though and if it is so amputation followed by a functional prosthesis should be considered. For example, a patient with non-functional foot should undergo amputation.

Limb-length discrepancy is one of the more difficult to address. If limb length discrepancy

<10% – lengthening of the involved limb or contralateral epiphysiodesis

> 30% – amputation

10-30% (the most challenging group) – Lengthening of the involved limb with a contralateral epiphysiodesis to inhibit the growth

If amputation is determined to be appropriate, the unmodified Syme amputation is generally recommended.

Posteromedial tibial bowing is a type of tibial bowing is a congenital bowing of the tibia with the apex directed posteriorly and medially. The cause is mostly physiological and is often associated with a calcaneovalgus foot deformity.

Two other types of tibial bowing are anteromedial bowing and anterolateral bowing.

Anterolateral bowing occurs in neurofibromatosis and pseudarthrosis of the tibia. Anteromedial bowing is associated with fibula hemimelia.

Posteromedial tibial bowing and calcaneovalgus foot deformity tend to resolve over time with little clinical disability but a leg-length inequality can develop that often requires treatment.

The degree of initial tibial deformity has been shown to be ultimately associated with the severity of tibial shortening and resulting limb-length inequality.

The cause of shortening is not known.

Posteromedial tibial bowing is thought to be caused by abnormal fetal positioning during pregnancy but developmental etiology cannot be ruled out

Clinical Presentation

Bowing of tibia is often obvious and is present at birth. The foot is hyperdorsiflexed and almost touched anterior aspect of the distal tibia. Posterior to apex, a dimple may be present.

Galeazzi test is done to assess significant limb-length inequality in children due to congenital deformities. The examination is performed with the patient supine and the hips and knees flexed. The result is considered positive if knees are at different levels height is asymmetrical.

Differential Diagnoses

Other types of tibial bowing, such as anterolateral and anteromedial bowing.

Intrauterine fracture or osteogenesis imperfecta

Lab Studies

No study is required for diagnosis. Studies for rickets may be required to rule out the condition in some cases.

Imaging Studies

X-ray

AP radiograph of the lower extremity with a ruler is done to measure limb length and to assess the deformity. A lateral radiograph of both tibiae is obtained to assess the deformity. X-ray of the foot should be done if the foot deformity is not corrected by 4-6 weeks.

Assessment of Limb-length inequality

Limb-length inequality value at the skeletal maturity needs to be predicted to know if any intervention is required beforehand.

Limb-length inequality at skeletal maturity is most reliably predicted from a series of at least three x-rays taken at least 6 months apart. Following methods are applied.

Teleoroentgenogram

Orthoradiography

Scanography

Inaccurate results are obtained if the hip is in flexion at the time of exposure.

In patients with flexion contracture of knee/hip lateral views need to be used.

CT is a better modality to assess limb length inequality.

Prediction of the ultimate limb-length inequality at skeletal maturity is done by using one of the following three methods.

Arithmetic method

Assuming growth rate of the distal femur /proximal tibia 1/0.6 cm/y, and considering skeletal maturity at age 16/14 years for boys/ girls, the final difference is calculated.

Growth-remaining curve

It relates chronologic age to limb length to determine a child’s growth percentile. By using this, the remaining growth of the tibia or femur can be determined graphically.

Moseley straight-line graph

It uses combination of both the above methods. Several measurements can be plotted on a single graph.

Multiplier Method

This method uses an arithmetic formula to determine limb inequality at maturity by simply taking the current limb-length inequality and multiplying it by a constant listed in a table by chronological age.

Treatment of Posteromedial Tibial Bowing

Initial Treatment

Tibial bowing resolves on its own over a time. The bigger concern is limb length inequality. So assessment of limb length inequality and its treatment demands a follow up of the child.

Initial treatment of the tibial bowing foot deformity includes stretching, serial casting, or splinting. A 50% correction is usually seen by age 2 years, though a mild deformity often persists.

If significant correction is not obtained by age 4-6 weeks, the diagnosis needs to be evaluated again and possibility of a more serious foot deformity, such as a vertical talus must be ruled

After the foot has fully corrected, a splint for maintaining correction until age 12-24 months.

Tibial osteotomy is rarely indicated in a significant deformity that does not correct by age of 2 years or a persistent deformity in children older than 10 years.

Correction of Limb Length Inequality

Most children with posteromedial bowing require a limb equalization procedure before skeletal maturity. The type of procedure depends on the degree of predicted limb-length inequality at skeletal maturity.

Limb-length inequalities of more than 5 cm are difficult to treat with a shoe lift. Epiphysiodesis of the contralateral limb to arrest the growth at an appropriate time can restore limb-length equality in most of these cases. A limb lengthening procedure of the ipsilateral limb may be indicated for more projected limb-length inequalities >5 cm, especially in children with short stature.

Epiphysiodesis is done at age of 11 years in females and age 13 years in males but it can vary depending on the patient’s skeletal age and the degree of the limb-length inequality.

Epihysiodesis inhibits growth and works only in patient who are left with growth potential. Thus it is not suitable for patients who have reached skeletal maturity or do not have required period before they reach the maturity.

Lengthening is usually performed with corticotomy and gradual distraction and is performed on the involved side.

The expected goal is limb-length equality in posteromedial tibial bowing is within 1 cm at skeletal maturity.

Absence of tibia is a rare birth defect characterized by deficiency of the tibia while the other bones of the lower leg relatively intact. The deficiency may occur in one or both legs. Right side is more commonly affected [72%]. Bilateral occurrence is found in about 30%.

Absence of tibia could be isolated birth defect but is commonly part of part of a recognized syndrome such as Werner’s syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome.

Most isolated cases occur sporadically in people with no family history.

The underlying cause is generally unknown.

There is a high-risk association of congenital dislocation of hip, aphalangism of upper and lower limbs; proximal femoral focal deficiency and hypoplasia of the femoral condyles.

There are varying degrees of tibial absence.

Presentation in Congenital Absence of Tibia

Tibial hemimelia presents as shortened leg with knee and ankle deformities. Varus in the ankle and a knee flexion contracture in the knee are can occur. There is deficiency of collateral ligaments as well and this leads to instability of the joints due to a lack of collateral ligaments.

Patellar bone may be absent and so could be quadriceps muscle. When present, their function is reduced.

The tibia may be shortened, dysplastic, or absent. The tibia may also present as an anlage—a fibrous remnant that does not appear on x-rays.

Fibula is normal or dysplstic. It is often dislocated from the knee. Foot deformities are present as well.

The spectrum of the tibial deficiency ranges from a congenitally short tibia with relative fibular overgrowth to complete absence of the tibia

Differential Diagnoses

Absence of tibia can be distinguished from fibular hemimelia and congenital deficiency of knee.

[foot and ankle are always in varus with absence of tibia and almost always in valgus in fibular hemimelia.]

Imaging

Radiographs recommended are anteroposterior and lateral views of leg showing complete tibia fibula. Joints on either side [knee and ankle] should be included in the x-ray.

X-rays show deficiency of the tibia. Early radiographs may show small and minimally ossified distal femoral epiphysis

Treatment of Congenital Absence of Tibia

Treatment is surgical. Following procedures could be done depending on the condition of absence of tibia.

Knee Disarticulation Followed by Prosthestic Fitting

The limb is amputated at the knee and when ready a prosthesis is fit. The procedure is indicated in complete absence of the tibia and when there is no active knee extension present

Tibiofibular Synostosis with Modified Syme Amputation

In this procedure, available proximal tibial stump is fixed to fibula. Syme amputation is an amputation done through the ankle joint but the heel pad is saved.

The procedure is indicated when proximal tibia present with intact extensor mechanism and there is minimal flexion contracture .

Syme amputation is needed because of ankle diastasis and foot deformities making them unusable for locomotion.

Brown Procedure (centralization of fibula under femur) is no longer recommended due to high failure rate

Dror Paley uses a different classification and different approach to treatment to maximize limb saving. Validity, reproducibility and acceptance of his approach by standard literature is yet to be seen.

Congenital pseudarthrosis of tibia is an uncommon disease with clinical presentations ranging from simple anterolateral tibial angulation to complete non-union with extensive bone defects. It is a rare disease, with an estimated frequency of 1/150,000 births. Pseudarthrosis means false joint. A relationship with type 1 neurofibromatosis or von Recklinghausen’s disease is known but exact pathophysiology has still not been clearly defined.

The disease becomes evident within a child’s first year of life though late presentations are known.

Pathophysiology of Congenital pseudarthrosis of tibia

The affected tibia has abnormal fibrovascular tissue grows replacing the bony cortex. It is called fibrous hamartoma and it promotes osteoclastic bone resorption. This leads to insufficient mechanical strength and poor osteogenetic potential at the site.

Reactive changes occur at medullary aspect leading to deposition of excess trabecular bone which is visible as medullary sclerosis on x-ray.

The cuff of fibrous tissue or fibrous hamartoma is in continuity with abnormal periosteal thickening. Fibrous hamartoma has low osteogenic [bone forming] and high osteoclastic [bone resorbing] activity.

The soft tissue at the pseudarthrotic site is composed fibrous tissue, fibrocartilage, and hyaline cartilage with evidence of enchondral ossification. Spaces and clefts are lined by a synovial-like tissue. Within the bone ends, marrow spaces are devoid of hematopoiesis.

This tissue causes compression, osteolysis, and persistence of pseudarthrosis. Resorption lacuna with giant osteoclasts are present at the pseudarthrosis-bone junction [Intracortical cysts] are found more in younger children.

Fibrous hamartoma and of the pathological periosteum also contribute to prevention of union by mechanical interposition. The periosteum could create a fibrous band causing an increase in local pressure around the bone resulting in reduced vascularization. The vascularlization defect could also be secondary to thickening of the vessel walls in the area of pseudarthrosis.

The ultrastructural findings in the abnormal periosteum are similar to skin neurofibromas of neurofibromatosis patients. This indicates a pathogenetic association of both diseases.

The composition of the pseudarthrotic tissue seems to be identical whether or not it is associated with NF1. The physiopathology of congenital pseudarthrosis of tibia could therefore be identical, irrespective of the association with neurofibromatosis 1.

40–80% with congenital pseudarthrosis of tibia are neurofibromatosis 1 carriers.

Clinical Presentation

Bowing may be discovered during a clinical examination at birth or in the first weeks in life.

The bow in tibia is anterolateral. Severe cases present a discontinuity between the two segment The clinical presentation varies considerably, from simple bowing to pathological fracture and pseudarthrosis.

Severity of shortening in the leg also varies.

Normally the disease is unilateral, located at the junction of the middle and distal thirds of the tibial segment. There is no predominance for sex. There is no predilection of side too.

The fibula is also affected in more than half of the cases.

Differential Diagnosis

Isolated congenital pseudarthrosis of tibia needs to differentiated from bone anomalies associated in neurofibromatosis 1. The latter is a multisystemic neurocutaneous disease with an autosomal dominant pattern and an estimated frequency of 1/4000 births.

Other differential diagnoses are

Fracture non-union

Failed bone graft

Ehlers-Danlos syndrome

Osteogenesis imperfecta

Fibrous dysplasia

Ochronosis

Imaging

X-ray

Depending upon the severity of the condition, xrays show simple convex anterolateral bowing to true tibial discontinuity with resorption of the two ends of the fracture.

In cystic form the cortices are continuous and thickened in the concave side of bow, medullary canal is narrow and an image of a cyst can be seen at the apex of the curvature. The deformity gradually worsens until transverse fracture occurs. In cystic forms, bowing appears at between 6 weeks and 1 year.

In dysplasic forms, the bowing is visible at birth and sometimes pseudarthrosis may already be present.

The tibia is narrow with an hourglass appearance and the medullary cavity is partially or completely obstructed.

The fibula is frequently affected in these types.

When pseudarthrosis has developed, the ends of the bone may be thin, atrophic or on the other hand, wide and hypertrophic.

This false joint is often in the distal third of the shaft, but can occur at any level. The fibula can be frequently affected

MRI

MRI provides provide more detailed analysis of both bone and especially soft tissue lesions. It is helpful for the preoperative planning in that the borders for resection can be defined precisely.

Crawford Classification

Type I

Anterior bowing with an increase in cortical density and a narrow medulla

Type II

Anterior bowing with narrow, sclerotic medulla,

Type III

Anterior bowing associated with a cyst or signs of a prefracture,

Type IV

Anterior bowing and a clear fracture with pseudarthrosis often associating the tibia and fibula;

Boyd Classification

It has six types and provides prognostic value

Type I

Anterior bowing associated with other congenital malformations

Type II

Anterior bowing with an hourglass appearance to the tibia

Fracture usually occurs before the age of 2.

The ends of the bone are thin, rounded and sclerotic with obliteration of the intramedullary canal.

Often associated with NF1

Poor prognosis with frequent recurrence

Type III

Pseudarthrosis developing from an intraosseous cyst

Anterior bowing can precede or follow the development of the fracture

High rate of union and rare recurrence

Type IV

Sclerotic bone with no pathological bowing.

Medullary canal is partially or completely obliterated.

Fatigue fracture may occur and progress to pseudarthrosis.

Good prognosis with treatment before fatigue fracture

The prognosis is good if treated before the fatigue fracture occurs,

Type V

Dyplasic appearance to the fibula

Pseudarthrosis can be located on either of the two bones of the tibial segment.

The prognosis is good if the lesion is located only on the fibula, extension to the tibia has a prognosis similar to type II,

Type VI

Associated with an intraosseous fibroma or a schwannoma.

Prognosis depends on the how aggressive is the intraosseous lesion.

Treatment of Congenital Pseudarthrosis of Tibia

Treatment of congenital pseudarthrosis of tibia is surgical. In its natural progression, the deformity and shortening worsens.

As the child is not operated before he reaches certain age, wearing a protective brace before the child has begun walking delays the fracture in bowing and limits the deformity if pseudarthrosis is already present.

The aims of surgical treatment is

Union at the pseudarthrosis site

Restoration of alignment

Surgery for CPT should preferably be postponed until the age of 5 years and should not be performed on patients under the age of 3 years. This is because of the difficulty of stabilizing small bone fragments in younger children.

Associated pseudarthrosis or hypoplasia of the fibula is seen in two-thirds of the cases. Yet the need for fibular surgery remains controversial.

Surgical Treatment Options

Intramedullary nailing and Bone Grafting

It involves resection of areas of pseudarthosis, intramedullary fixation and grafting. The use of a telescopic nail or pins helps protect the reconstructed area during growth and avoids having to change the internal fixation. A rate of union of more than 80% has been reported.

Vascularized bone transfers

This involves wide resection of the dystrophic tibia and augmentation with a vascularized graft. Vascularized graft means the graft has its own blood supply and is not dependent on host site circulation for survival, thus enhancing the results. Contralateral fibula is mostly used for the purpose of graft though fibula of same side has also been used with success.

The graft is fixed by screwing or pinning with and without external fixation.

Rate of primary union of vascularized transfers is more than 70%. The success rate increases with the patient’s age.

In 30% of cases, secondary bone grafting is necessary to obtain bone union.

Valgus ankle deformity on the donor side, re-fracture in the graft itself, recurrent nonunion at one end of the graft site and residual limb-length discrepancy are the known issues.

If the procedure is combined with intramedullary nailing, it prevents re-fracture rate significantly.

External fixation

Thus it can correct deformities of leg and ankle and limb length discrepancy simultaneously. It especially good in cases with small bone fragments.

But it is cumbersome, complex and associated with a high risk of infection.

The rate of union varies from between 50 and 90%

Graft Adjuvants and Orthobiologics

These methods when used along with conventional procedures stimulate the bone healing process. The efficiency of novel biological treatments still has to be demonstrated.

Bone Morphogenetic Proteins

Two recombinant human osteogenic proteins have been described.

BMP-2 acts earlier on the proliferation and differentiation of mesenchymous cells into chondroblasts while BMP-7 acts on osteoblast differentiation.

Induced membrane and spongy autologous graft

In the first stage a cement spacer in fills the defect to be reconstructed associated with stable internal fixation. In second surgery, spongy autologous graft is put after removing the cement spacer.

Periosteal grafts

This technique involves complete resection of the diseased periosteum around the area of pseudarthrosis, which is replaced with a periosteal graft harvested from the iliac wing which covers the resected area after placement of a bone graft and intramedullary tibular and fibular internal fixation.

Autologous and bone marrow grafts

Under research, the capacity of bone marrow cells to differentiate into osteoblastic cell lines could be enough to justify its use in the treatment of CPT.

Cleidocranial dysostosis or dysplasia is a genetically transmitted skeletal dysplasia affecting mainly membranous bones. It is a relatively rare condition, first described by Marie and Fenton in 1897. The condition that primarily affects the development of the membranous bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.

The condition affects both sexes equally, and may be transmitted by either father or mother, to sons or daughters. Several cases are reported, however, in which neither a familial nor a hereditary history was discoverable.

Deformities in Cleidocranial Dysostosis

Clavicle

The following varieties of defect of the clavicle may be distinguished

Ends of the bone are normal, but there is a pseudarthrotic gap filled with connective tissue between.

Partial defect of one end, usually the acromial end which is replaced by fibrous tissue.

Whole clavicle is absent.

Sometimes the scapula is absent in addition. In these cases, the deformity is regarded as an aplasia of the whole shoulder girdle rather than a dysostosis.

Muscles

The clavicular portion of the trapezius may be absent

Maldevelopment of the pectoralis major

The clavicular portion of the deltoid may deficient

There may be a wide variation in the form of the sternomastoid.

Skull

Many there malformations have been reported in association with defective clavicles. Some of these are

Brachycephaly and dolichocephaly

Malformations of the various sutures, fontanelles and bones of the skull

Malformation of facial bones

Disturbances of dentition

Other Associated Conditions

Variations in the small bones of the hands and feet

Deformities of the thorax, spine and pelvis

Prolapsed of the virginal uterus

Inguinal hernia

Spina bifida.

Cause and Pathophysiology

Mutation in CBFA1 gene appears to be the causative factor. It could be genetically transmitted or result of sporadic mutation. This mutation leads to incomplete intramembranous ossification of midline skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones.

Clinical Presentation of Cleidocranial Dysostosis

The patient is usually brought to the surgeon on account of some accidentally discovered trouble with the shoulder.

Examination usually shows an apparently un-united fracture, or complete absence, of the clavicle, and the patient can usually approximate the tips of his shoulder to each other below the chin.

The defect is bilateral 80% of the cases. There is a spectrum of clinical features which patient might have. All patients may not have all the features.

Due to underdeveloped bones and joints, people are shorter and their frames are smaller.

Following are the other clinical features that might be present

Large head, with large fontanelles with delayed closure. A soft area in the top of the head where the fontanelle failed to close, may be palpated. Bulging forehead may be present

Broad mandible mainly due to hypoplasia of maxilla and other bones

Supernumerary teeth, failure of eruption of permanent teeth

High arched palate

Excessively mobile shoulders

Genu valgum

Short fingers with hypoplasia of terminal phlanges

Hypertelorism

Widened symphysis due to delayed ossification of bones

Varus deformity at hip [coxa vara]

Scoliosis, spina bifida and syringomyelia have also been described

Basilar invagination

Abnormal ear structures with hearing loss,

Supernumerary ribs

Hemivertebrae with spondylosis

Small and high scapulae

Iliac bone hypoplasia

Short/absent fibular bones, radial bones

Imaging

Xrays of different regions show different findings

Skull

Wormian bones – These are extra bone pieces in the sutures of skull

Wide sagittal sutures and/or fontanelles

Brachycephaly or short skull – This occurs due to premature fusion of the coronal suture

Basilar invagination or atlantoaxial impaction – It refers to invagination or infolding of the base of the skull that occurs when the top of the C2 vertebra migrates upward.

Persistent metopic suture

Supernumerary or abnormal teeth

Abnormal ear structures

Chest

Hypoplasia/aplasia of lateral clavicle (absent clavicles): may have two separate hypoplastic segments

Supernumerary ribs

Hemivertebrae with spondylosis

Small and high scapulae

Pelvis

Hypoplasia of iliac bones

Absent/delayed ossification of the pubic bone (Appears as widening of the symphysis pubis)

Extremities

Short/absent fibula

Short/absent radius

Coxa vara

Hypoplastic terminal phalanges

Treatment of Cleidocranial Dysostosis

If pain is present from the pressure of one or other of the ends or there is brachial plexus irritation causing pain and numbness, then removal of the part is indicated. As a rule there is little or no disability or discomfort and the abnormal mobility is not usually a hindrance.

Some surgeons prefer surgical correction to prevent any worsening of the deformity.

Supranumery teeth need to be removed as they will crowd the teeth in already underdeveloped jaw.

This condition is also called congenital genu recurvatum. It was first described by Chatelain as congenital dislocation of knee.

Congenital knee dislocation occurs in children with myelomeningocele arthrogryposis and Larsen’s syndrome. This condition is often associated with developmental dysplasia of the hip, clubfoot, and metatarsus adductus.

Congenital dislocation of knee is 100 times less common than congenital hip dislocation. Developmental dysplasia of hip and clubfoot are the commonly associated anomalies.

50% of patients with congenital knee dislocations will have hip dysplasia affect one or both hips and about 70% would have associated clubfoot.

Bilateral congenital dislocation of knee is almost always associated with syndromes, most commonly with laxity syndromes, Ehlers-Danlos syndrome, Larson’s syndrome, or Beal’s syndrome.

The congnital dislocation of knee occurs in less than 1 in 1000 live births.

Causes of Congenital Dislocation of Knee

Various causative factors factors have been proposed for congenital dislocation of knee. These are

Abnormal fetal positioning

Quadriceps fibrosis/atrophy

Patellar hypolasia

Contracture of iliotibial band

Lack of formation or atrophy of suprapatellar pouch

Hypoplasia of cruciate ligaments

Ligament laxity syndrome

Arthrogryposis

Spinal dysraphism

Congenital knee dislocation is mainly of three types

Traumatic Developmental Type.

This type of dislocation is most common and considered to result because of malposition of limb in uterus. The knee is in extension and gets further compressed into recurvatum by uterine compression which also is responsible for prevention of flexion.

Primary Embryonic Defect

The dislocation of the knee is part of the spectrum of disorders occurring due to embryonic defect.

There could be other defects present. This type is usually accompanied by other defects, such as hare-lip cardiac defects, spina bifida and congenital dislocation of the hip. This type of congenital dislocation of knee is uncommon. It is also most difficult to treat.

Quadriceps Contracture

This theory says that there is quadriceps muscle contracture that drags knee into a deformed position similar to that found in arthrogryposis.

Presentation of Congenital Knee Dislocation

At birth, the knee is found fixed hyperextension with a varying degree of subluxation or dislocation forwards of the tibia on the femoral condyles, and the skin cover the anterior aspect of the joint shows several transverse creases. The patella is small or absent.

On the posterior aspect of the joint, the hamstring muscles are palpable as tense cords, and the femoral condyles are felt projecting in the popliteal fossa. The joint is relatively fixed.

When attempts are made to flex the dislocated knee, an elastic resistance is felt because of quadriceps tendon.

Tight collateral ligament and anteriorly subluxated hamstring could also be resisting factors.

Broadly speaking, depending on the position of the tibia and femur, knee dislocation could be

Proximal tibia in relation to distal femur, but the knee is markedly hyperextended.

Proximal tibia dislocated forwards in relation to the distal femur.

Treatment of Congenital Dislocation of Knee

Most of the cases of congenital dislocation of knee can be treated non-operatively. The treatment is done by reduction with manual manipulation and casting with long leg casting.

Treatment is begun at birth of shortly thereafter and the casts are repeated at 2 to 3 day intervals until flexion beyond 90 degree is obtained. Thereafter a bivalve cast is used for 3 months.

The cast is removed twice a day for 30 minute intervals and active flexion and extension is carried out. An x- ray check-up is obtained during correction to make certain that the proximal tibia a maintaining a normal anatomical relationship to the distal femur.

Cast is generally removed after about 3 month period and a removable cast or brace is applied to counter any tendency to return to a hyperxtended position.

Sometimes, due to capsular adherence and anterior subluxation of hamstring, the reduction becomes difficult.

If the reduction is not accomplished surgery is indicated as soon as the difficult is recognized at 3-6 months

[If both knee and hip dislocated, then knee needs to be treated first as Pavlik harness which is used for treatment of congenital hip dislocation cannot be applied if the knee is dislocated.]

Surgery for Congenital Knee Dislocation

Surgery consists of soft tissue release which is indicated if there is a failure to gain 30 degrees of flexion after 3 months of casting.

Goal of surgery is to obtain 90 degrees of flexion. It is accomplished by following surgical procedures as needed

Quadriceps tendon lengthening

anterior joint capsule release

Posterior transposition of hamstring tendon

Mobilization of collateral ligaments

Postoperatively, the limb is kept in cast in 45 to 60 degrees of flexion for 3 to 4 weeks.

Nail abnormalities are seen in almost all individuals with nail-patella syndrome. Patients commonly have skeletal abnormalities involving the knees, elbows, and hips.

The kneecaps or patellae are small, irregularly shaped, or absent. Patellar dislocation is common.

Individuals have increased risk of developing glaucoma at an early age. Some people develop kidney disease, which can progress to kidney failure.

The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 individuals.

Males and females are equally affected.

Other Names for Nail Patella Syndrome

Fong disease

Hereditary onycho-osteodysplasia

Hereditary osteo-onychodysplasia

Osterreicher syndrome

Pelvic horn syndrome

Turner-Kieser syndrome

Pathophysiology and Genetics

The LMX1B gene is a transcription factor involved in the patterning of limbs including patterning of the nails, digits, elbows and patellae. It is also involved in the differentiation and function of kidney podocytes, development of the anterior eye structures, and the central nervous system.

The LMX1B protein is important during early embryonic development of the limbs, kidneys, and eyes.

Mutations in the LMX1B gene lead to the production of defective protein but how it can lead to the signs and symptoms of nail-patella syndrome is not clear yet.

The loss of function of one allele of LMX1B is known to cause nail-patella syndrome.

Presentation of Nail Patella Syndrome

These patients also tend to have an overall typically thin body habitus, and they have difficulty gaining weight. Other findings on physical examination may include the following. These patients have following spectrum of problems. Different people may have different set of conditions and symptoms.

The hallmark features of this syndrome are poorly developed fingernails, toenails, and kneecaps.

Nail Anomalies

These are present at birth. Nails may be absent, short or dystrophic with ridges. Sometimes triangular lunulae is the sole nail anomaly. Thumb is usually most severely affected.

Decreased creases over the distal interphalangeal joints are noted.

Knees

The patients have recurrent patellar dislocations and frequent knee pains. Deformities of the knees may be present.

Patellae may be absent or hypoplastic. Osteoarthritic changes may be present.

Kidneys

Eyes

Rise in eye pressure or open-angle glaucoma may be observed. Early detection of elevated intraocular pressure and appropriate treatment may prevent the nerve or retinal damage. Lester sign is a hyperpigmented, irregular ring in the iris may be noted.

Iliac Horns

These are bony prominences found in about 70% of patients which are typically asymptomatic and may be palpable on the posterolateral iliac bones or detected on xray. These are considered pathognomonic of nail patella syndrome.

Other Conditions

Attention deficit disorder may be more common in patients with nail patella syndrome. These patients may have higher risk of preeclampsia in pregnancy. It is a condition where there is rise in blood pressure along with other changes.

Constipation and irritable bowel syndrome are more common

Flat foot or pes planus is seen in majority of patients with nail-patella syndrome.

Differential Diagnoses

Genitopatellar syndrome

Meier-Gorlin syndrome

Patellar aplasia-hypoplasia

RAPADILINO syndrome

Small patella syndrome

Laboratory Studies

LMX1B Sequencing

This is diagnostic in the majority of patients. Once a mutation is found, other family members should also undergo testing.

Screening and Follow Up Investigations

Yearly urinalysis with microscopy along with urine protein to creatinine ratio to assess kidney functions

Dual energy x-ray absorptiometry or DXA may be considered to evaluate bone mineral content.

Treatment

Drug treatment as required is started. For example ACE inhibitors for proteinuria, hypertension, or both are indicated. No dietary restrictions are necessary unless hypertension or nephrotic syndrome develop.

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